Mutagenetix > Incidental Mutation

Incidental Mutation 'R8774-TAIL:Blm'

667971

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8774-TAIL

Quality Score

140.467

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

TCC to TCCGCC at 80512919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]

AlphaFold

O88700

Predicted Effect

probably benign
Transcript: ENSMUST00000081314

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	118	132	N/A	INTRINSIC
low complexity region	142	169	N/A	INTRINSIC
low complexity region	219	231	N/A	INTRINSIC
low complexity region	318	335	N/A	INTRINSIC
Pfam:BDHCT	376	416	5.5e-27	PFAM
low complexity region	557	574	N/A	INTRINSIC
DEXDc	672	873	1.59e-29	SMART
HELICc	910	992	1.29e-24	SMART
RQC	1084	1198	1.43e-15	SMART
HRDC	1217	1297	9.4e-20	SMART
low complexity region	1357	1371	N/A	INTRINSIC
low complexity region	1378	1392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170315

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528

Domain	Start	End	E-Value	Type
Pfam:BLM_N	4	375	1.1e-161	PFAM
Pfam:BDHCT	380	419	6.4e-25	PFAM
Pfam:BDHCT_assoc	433	658	8.8e-108	PFAM
DEXDc	675	876	1.59e-29	SMART
HELICc	913	995	1.29e-24	SMART
Pfam:RecQ_Zn_bind	1006	1078	1.5e-19	PFAM
RQC	1087	1201	1.43e-15	SMART
HRDC	1220	1300	9.4e-20	SMART
low complexity region	1360	1374	N/A	INTRINSIC
low complexity region	1381	1395	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,087 (GRCm38)	L140P	probably damaging	Het
Abca1	A	G	4: 53,090,358 (GRCm38)	S364P	possibly damaging	Het
Abcc2	T	A	19: 43,799,138 (GRCm38)	Y208N	probably damaging	Het
Acy1	A	T	9: 106,436,714 (GRCm38)	D82E	probably damaging	Het
Ankub1	A	G	3: 57,690,381 (GRCm38)	L56P	probably damaging	Het
Aoc1	T	A	6: 48,908,595 (GRCm38)	F678Y	probably damaging	Het
Asxl3	C	A	18: 22,524,044 (GRCm38)	Q1704K	probably damaging	Het
Atg9b	T	C	5: 24,390,573 (GRCm38)	D236G	probably damaging	Het
Auh	A	T	13: 52,839,595 (GRCm38)	M261K	probably benign	Het
C2cd6	A	T	1: 59,060,666 (GRCm38)	M372K	possibly damaging	Het
Ccdc88b	A	T	19: 6,847,722 (GRCm38)	N1287K	probably damaging	Het
Cebpz	A	G	17: 78,921,644 (GRCm38)	S958P	probably benign	Het
Cgn	T	A	3: 94,773,500 (GRCm38)	Q576L	probably damaging	Het
Chd7	T	A	4: 8,854,692 (GRCm38)	M2011K	probably damaging	Het
Cntnap4	A	G	8: 112,803,188 (GRCm38)	E676G	probably benign	Het
Cspp1	A	T	1: 10,112,914 (GRCm38)	E781D	possibly damaging	Het
Cyb5d2	A	C	11: 72,789,075 (GRCm38)		probably null	Het
Epn3	G	T	11: 94,492,394 (GRCm38)	P335T	possibly damaging	Het
Fam160a1	G	C	3: 85,672,790 (GRCm38)	Q703E	probably benign	Het
Far2	T	A	6: 148,146,131 (GRCm38)	S103T	probably benign	Het
Fhl2	A	G	1: 43,123,591 (GRCm38)	S255P	probably damaging	Het
Fmnl2	T	A	2: 53,042,309 (GRCm38)	V100D		Het
Gabbr1	T	C	17: 37,071,857 (GRCm38)	L814P	probably damaging	Het
Gzmg	C	T	14: 56,156,736 (GRCm38)	V234I	probably benign	Het
Ift172	A	G	5: 31,257,863 (GRCm38)	V1334A	probably benign	Het
Itga8	C	G	2: 12,182,684 (GRCm38)	G728A	probably damaging	Het
Klrg1	T	C	6: 122,278,234 (GRCm38)	T80A	probably benign	Het
Lrp4	A	G	2: 91,477,698 (GRCm38)	N496S	probably benign	Het
Lsmem1	G	T	12: 40,177,146 (GRCm38)	N113K	probably damaging	Het
Map3k2	G	A	18: 32,212,064 (GRCm38)	S314N	probably damaging	Het
Mtpap	C	T	18: 4,387,032 (GRCm38)	R361*	probably null	Het
Muc5b	T	A	7: 141,865,094 (GRCm38)	S3926T	probably benign	Het
Nat10	C	A	2: 103,731,407 (GRCm38)	R643L	probably damaging	Het
Ncbp3	T	C	11: 73,047,982 (GRCm38)	V28A	probably benign	Het
Nlrp9a	T	C	7: 26,558,559 (GRCm38)	L534P	possibly damaging	Het
Nmi	T	C	2: 51,958,962 (GRCm38)	K39E	probably benign	Het
Nxpe4	A	G	9: 48,393,392 (GRCm38)	N260D	probably benign	Het
Olfr1282	T	C	2: 111,335,973 (GRCm38)	Y35C	probably damaging	Het
Olfr612	C	A	7: 103,538,758 (GRCm38)	V159L	probably benign	Het
Olfr806	T	A	10: 129,738,057 (GRCm38)	I287F	probably damaging	Het
Olfr897-ps1	G	A	9: 38,309,304 (GRCm38)	A170T	unknown	Het
Pirb	G	T	7: 3,717,729 (GRCm38)	L257M	probably damaging	Het
Plcg2	A	T	8: 117,579,846 (GRCm38)	D313V	possibly damaging	Het
Ppard	G	A	17: 28,298,890 (GRCm38)	V311I	possibly damaging	Het
Ptcd1	A	T	5: 145,155,365 (GRCm38)	M308K	probably damaging	Het
Pygo1	A	G	9: 72,945,154 (GRCm38)	N208D	possibly damaging	Het
Robo1	T	G	16: 73,035,831 (GRCm38)	D1497E	probably benign	Het
Sdk2	T	C	11: 113,839,343 (GRCm38)	D1022G	probably damaging	Het
Shc3	G	A	13: 51,461,439 (GRCm38)	H161Y	probably damaging	Het
Slc15a1	G	T	14: 121,487,011 (GRCm38)	Q150K	probably damaging	Het
Sod1	T	G	16: 90,226,151 (GRCm38)	V120G	probably damaging	Het
Sprr2f	T	A	3: 92,366,016 (GRCm38)	C41S	unknown	Het
Svil	A	T	18: 5,049,068 (GRCm38)	Y115F	probably damaging	Het
Tdp1	T	C	12: 99,911,658 (GRCm38)	S400P	probably damaging	Het
Thbs4	A	T	13: 92,761,522 (GRCm38)	D596E	probably damaging	Het
Tshz1	T	A	18: 84,014,976 (GRCm38)	M436L	possibly damaging	Het
Ube3c	C	T	5: 29,607,031 (GRCm38)	T423I	probably benign	Het
Unc93a	A	T	17: 13,122,950 (GRCm38)	I98N	probably damaging	Het
Usp33	T	A	3: 152,379,576 (GRCm38)	Y624*	probably null	Het
Vmn1r217	T	A	13: 23,113,938 (GRCm38)	M265L	probably benign	Het
Vmn1r222	A	T	13: 23,232,248 (GRCm38)	M265K	probably benign	Het
Vmn2r16	C	T	5: 109,340,365 (GRCm38)	T368M	probably benign	Het
Zfp867	A	G	11: 59,464,011 (GRCm38)	F164S	probably damaging	Het
Zswim1	C	T	2: 164,826,142 (GRCm38)	T438I	probably benign	Het

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80,474,071 (GRCm38)	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80,463,941 (GRCm38)	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80,502,961 (GRCm38)	splice site	probably benign
IGL02060:Blm	APN	7	80,514,580 (GRCm38)	splice site	probably benign
IGL02063:Blm	APN	7	80,509,419 (GRCm38)	nonsense	probably null
IGL02102:Blm	APN	7	80,469,756 (GRCm38)	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80,496,006 (GRCm38)	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80,503,377 (GRCm38)	splice site	probably null
IGL02566:Blm	APN	7	80,474,196 (GRCm38)	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80,494,147 (GRCm38)	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
FR4304:Blm	UTSW	7	80,463,773 (GRCm38)	frame shift	probably null
FR4340:Blm	UTSW	7	80,512,910 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
FR4449:Blm	UTSW	7	80,512,908 (GRCm38)	small insertion	probably benign
FR4548:Blm	UTSW	7	80,463,769 (GRCm38)	frame shift	probably null
FR4589:Blm	UTSW	7	80,463,770 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,774 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,771 (GRCm38)	frame shift	probably null
FR4976:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4976:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
R0133:Blm	UTSW	7	80,502,367 (GRCm38)	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80,464,946 (GRCm38)	unclassified	probably benign
R0526:Blm	UTSW	7	80,505,893 (GRCm38)	nonsense	probably null
R0673:Blm	UTSW	7	80,499,751 (GRCm38)	critical splice donor site	probably null
R0972:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R0980:Blm	UTSW	7	80,499,958 (GRCm38)	splice site	probably null
R1120:Blm	UTSW	7	80,481,466 (GRCm38)	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80,455,417 (GRCm38)	nonsense	probably null
R1769:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R1866:Blm	UTSW	7	80,494,114 (GRCm38)	missense	probably benign	0.08
R1874:Blm	UTSW	7	80,497,418 (GRCm38)	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80,513,186 (GRCm38)	missense	possibly damaging	0.86
R1991:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2013:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80,505,926 (GRCm38)	missense	probably benign	0.26
R2103:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2161:Blm	UTSW	7	80,481,370 (GRCm38)	splice site	probably null
R2215:Blm	UTSW	7	80,499,847 (GRCm38)	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80,513,079 (GRCm38)	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80,502,862 (GRCm38)	missense	probably benign	0.04
R4155:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R4695:Blm	UTSW	7	80,494,228 (GRCm38)	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80,463,848 (GRCm38)	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80,466,826 (GRCm38)	missense	probably benign
R4835:Blm	UTSW	7	80,509,546 (GRCm38)	missense	probably benign	0.41
R4994:Blm	UTSW	7	80,458,825 (GRCm38)	missense	probably benign	0.00
R5039:Blm	UTSW	7	80,505,873 (GRCm38)	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80,458,936 (GRCm38)	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80,513,229 (GRCm38)	missense	probably benign	0.00
R5408:Blm	UTSW	7	80,502,622 (GRCm38)	missense	probably benign	0.01
R5574:Blm	UTSW	7	80,499,773 (GRCm38)	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80,460,832 (GRCm38)	splice site	probably null
R5702:Blm	UTSW	7	80,458,927 (GRCm38)	missense	probably benign	0.13
R5809:Blm	UTSW	7	80,464,844 (GRCm38)	missense	probably damaging	1.00
R6114:Blm	UTSW	7	80,513,487 (GRCm38)	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80,512,985 (GRCm38)	missense	probably benign	0.18
R6163:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6254:Blm	UTSW	7	80,480,342 (GRCm38)	missense	probably benign	0.04
R6266:Blm	UTSW	7	80,499,940 (GRCm38)	missense	probably benign	0.03
R6364:Blm	UTSW	7	80,494,526 (GRCm38)	nonsense	probably null
R6446:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6502:Blm	UTSW	7	80,481,475 (GRCm38)	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80,463,850 (GRCm38)	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80,469,753 (GRCm38)	missense	probably benign	0.00
R7105:Blm	UTSW	7	80,499,768 (GRCm38)	missense	probably benign	0.44
R7320:Blm	UTSW	7	80,455,354 (GRCm38)	nonsense	probably null
R7465:Blm	UTSW	7	80,513,115 (GRCm38)	missense	probably benign	0.02
R7561:Blm	UTSW	7	80,502,528 (GRCm38)	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80,455,284 (GRCm38)	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80,494,216 (GRCm38)	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80,512,918 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80,512,931 (GRCm38)	small insertion	probably benign
R8860:Blm	UTSW	7	80,494,528 (GRCm38)	missense	probably benign	0.30
R8928:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R9089:Blm	UTSW	7	80,513,119 (GRCm38)	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80,458,915 (GRCm38)	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,903 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,905 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF007:Blm	UTSW	7	80,512,933 (GRCm38)	nonsense	probably null
RF016:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF018:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF027:Blm	UTSW	7	80,512,914 (GRCm38)	frame shift	probably null
RF028:Blm	UTSW	7	80,512,905 (GRCm38)	nonsense	probably null
RF031:Blm	UTSW	7	80,512,923 (GRCm38)	small insertion	probably benign
RF031:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF032:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF036:Blm	UTSW	7	80,512,914 (GRCm38)	nonsense	probably null
RF044:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF053:Blm	UTSW	7	80,512,921 (GRCm38)	small insertion	probably benign
RF064:Blm	UTSW	7	80,512,923 (GRCm38)	nonsense	probably null
X0061:Blm	UTSW	7	80,458,850 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

Posted On

2021-03-08